Summary & Overview
CPT 0417U: Comprehensive Mitochondrial Disorders Genomic Analysis
CPT code 0417U designates a proprietary laboratory assay: the Genomic Unity® Comprehensive Mitochondrial Disorders Analysis by Variantyx Inc. This PLA code covers combined whole mitochondrial genome sequencing plus targeted evaluation of 335 nuclear genes related to mitochondrial function, using blood or saliva. The code matters nationally because it identifies a specific, manufacturer-unique test for diagnosing rare mitochondrial disorders, a group of conditions with complex genetic etiology and important implications for patient management and genetic counseling.
Key payers evaluated include Aetna, Blue Cross Blue Shield, Cigna, UnitedHealthcare, and Medicare. Readers will find national-level context on coverage relevance for a PLA test, clinical use cases where comprehensive mitochondrial testing is indicated, and the service and site-of-service expectations tied to the assay. The publication outlines benchmarks relevant to proprietary genomic testing, summarizes policy considerations that affect billing and payer processing for PLA codes, and provides clinical context on how whole mitochondrial genome sequencing plus nuclear gene analysis contributes to diagnosing energy metabolism disorders. Data not available in the input is noted where applicable.
Billing Code Overview
CPT code 0417U is a Proprietary Laboratory Analyses (PLA) code that applies only to a single, specific laboratory test: Genomic Unity® Comprehensive Mitochondrial Disorders Analysis from Variantyx Inc. The test uses a blood or saliva sample to perform whole mitochondrial genome sequencing and targeted analysis of 335 nuclear genes involved in mitochondrial function. Results aim to identify rare mitochondrial disorders that affect cellular energy production.
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Service type: Genetic/Genomic diagnostic testing (proprietary laboratory assay)
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Typical site of service: Clinical laboratory; specimens (blood or saliva) are collected in outpatient settings such as physician offices, specialty clinics, or diagnostic specimen collection centers.
Clinical & Coding Specifications
Clinical Context
A 12-year-old patient with progressive exercise intolerance, recurrent lactic acidosis, and multisystem findings (neurologic delay, myopathy, and sensorineural hearing loss) is evaluated by a pediatric neurologist. After clinical assessment, prior metabolic workup, and family history suggestive of maternally inherited disease, the clinician orders the Genomic Unity® Comprehensive Mitochondrial Disorders Analysis (0417U) from Variantyx Inc. A blood or saliva specimen is collected at an outpatient phlebotomy center or clinic and shipped to the performing laboratory. The laboratory performs whole mitochondrial genome sequencing and a targeted nuclear gene panel of 335 nuclear genes involved in mitochondrial function. The test report is returned to the ordering provider with variant interpretations that guide diagnosis, genetic counseling, and care planning for rare mitochondrial disorders.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | No modifier applicable (placeholder) | Rarely used; not typically appended to PLA codes unless payer requires a default placeholder. |
22 | Increased procedural services |